Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample OR2M3 127062 broad.mit.edu 37 1 248366998 248366998 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr1:248366998C>T ENST00000456743.1 + 1 667 c.629C>T c.(628-630)cCt>cTt p.P210L NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTGTTTTCCCTGTTGCAATC 0.418 49 351 --- --- --- --- MORC1 27136 broad.mit.edu 37 3 108819312 108819312 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr3:108819312C>T ENST00000232603.5 - 5 348 c.266G>A c.(265-267)cGg>cAg p.R89Q MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 89 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GGTTGACAGCCGTTTTTTGGA 0.398 3 147 --- --- --- --- RNF8 9025 broad.mit.edu 37 6 37336290 37336290 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr6:37336290C>T ENST00000373479.4 + 3 464 c.271C>T c.(271-273)Cgt>Tgt p.R91C RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R91C NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 91 FHA. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GAACAGAGCGCGTCTGGAACC 0.423 3 139 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75855959 75855959 + Splice_Site SNP C C A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr6:75855959C>A ENST00000322507.8 - 24 4728 c.4419G>T c.(4417-4419)ttG>ttT p.L1473F COL12A1_ENST00000416123.2_Splice_Site_p.L1473F|COL12A1_ENST00000483888.2_Splice_Site_p.L1473F|COL12A1_ENST00000345356.6_Splice_Site_p.L309F NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1473 cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAGGCACTGGCACTTCCAAAA 0.418 4 26 --- --- --- --- CACNA2D1 781 broad.mit.edu 37 7 81591292 81591292 + Missense_Mutation SNP A A C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr7:81591292A>C ENST00000356860.3 - 36 3222 c.2884T>G c.(2884-2886)Tgc>Ggc p.C962G CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C974G NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 974 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TCAGTAATGCAGCTCTGCTTG 0.448 10 57 --- --- --- --- MMP16 4325 broad.mit.edu 37 8 89128877 89128877 + Silent SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr8:89128877C>T ENST00000286614.6 - 6 1223 c.942G>A c.(940-942)ccG>ccA p.P314P MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 314 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.P314P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TTGGGTCAGCCGGAGGAATAG 0.537 22 179 --- --- --- --- KIF11 3832 broad.mit.edu 37 10 94405250 94405250 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr10:94405250C>T ENST00000260731.3 + 18 2488 c.2398C>T c.(2398-2400)Cac>Tac p.H800Y NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 800 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCTGTGAAACACTCTGATAA 0.353 4 46 --- --- --- --- OR4K14 122740 broad.mit.edu 37 14 20482441 20482441 + Missense_Mutation SNP G G C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr14:20482441G>C ENST00000305045.2 - 1 911 c.912C>G c.(910-912)aaC>aaG p.N304K NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) TCACCCGTCGGTTTTGCAGTT 0.358 5 142 --- --- --- --- USP50 373509 broad.mit.edu 37 15 50833426 50833426 + Silent SNP T T C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr15:50833426T>C ENST00000532404.1 - 4 653 c.480A>G c.(478-480)ggA>ggG p.G160G USP50_ENST00000530218.1_Intron NM_203494.4 NP_987090.2 E9PP86 E9PP86_HUMAN ubiquitin specific peptidase 50 160 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) TCTGAGTAGATCCTTTCTCAT 0.393 3 75 --- --- --- --- WDR83 84292 broad.mit.edu 37 19 12780686 12780686 + Missense_Mutation SNP G G A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr19:12780686G>A ENST00000418543.3 + 3 431 c.82G>A c.(82-84)Gtg>Atg p.V28M WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|WDR83OS_ENST00000596731.1_5'UTR NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 28 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 GCAGGGGGCAGTGCGAGCCGT 0.637 3 137 --- --- --- --- TRPM4 54795 broad.mit.edu 37 19 49671826 49671826 + Missense_Mutation SNP G G A TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr19:49671826G>A ENST00000252826.5 + 6 755 c.629G>A c.(628-630)aGg>aAg p.R210K TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 210 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TTCCCTGCGAGGTACCGGTGG 0.647 3 94 --- --- --- --- SON 6651 broad.mit.edu 37 21 34931659 34931659 + Missense_Mutation SNP A A C TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr21:34931659A>C ENST00000356577.4 + 5 6920 c.6445A>C c.(6445-6447)Aaa>Caa p.K2149Q SON_ENST00000290239.6_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q|SON_ENST00000300278.4_Missense_Mutation_p.K2149Q NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 2149 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CAGTGAACCCAAACCTATTTT 0.323 12 95 --- --- --- --- TMPRSS2 7113 broad.mit.edu 37 21 42843813 42843813 + Missense_Mutation SNP A A T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9667b442-1eb3-4431-bece-f53abb42e5e6 9e145950-4c73-4ca2-a9a7-1e915b9268ec g.chr21:42843813A>T ENST00000398585.3 - 10 1166 c.1106T>A c.(1105-1107)aTt>aAt p.I369N TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.I332N NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 332 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TGGATGAGAAATCACTTTTTC 0.458 T """ERG, ETV1, ETV4, ETV5""" prostate 3 56 --- --- --- ---